Variant report

Variant	esv3497003
Chromosome Location	chr4:103811857-103812439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552069722	chr4:103811864-103811865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570100789	chr4:103811900-103811901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190561512	chr4:103811979-103811980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370868415	chr4:103811981-103811982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199492699	chr4:103811998-103811999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112056340	chr4:103812096-103812097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573842580	chr4:103812117-103812118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534675590	chr4:103812170-103812171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570114934	chr4:103812179-103812180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577632757	chr4:103812229-103812230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544946357	chr4:103812233-103812234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373666209	chr4:103812248-103812249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549716095	chr4:103812290-103812291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116373301	chr4:103812345-103812346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545165372	chr4:103812358-103812359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386508451	chr4:103812391-103812392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548688719	chr4:103812401-103812402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575308152	chr4:103812423-103812424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542850610	chr4:103812429-103812430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560819777	chr4:103812430-103812431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528226646	chr4:103812431-103812432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103791200-103834800	Weak transcription	Ovary	ovary
2	chr4:103791400-103818600	Weak transcription	HSMMtube	muscle
3	chr4:103796400-103819800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:103799000-103812800	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:103799000-103816800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:103799000-103817000	Weak transcription	Fetal Stomach	stomach
7	chr4:103799200-103812400	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:103799200-103812400	Weak transcription	Fetal Thymus	thymus
9	chr4:103799200-103817200	Weak transcription	Brain Germinal Matrix	brain
10	chr4:103799200-103819400	Weak transcription	Thymus	Thymus
11	chr4:103799600-103812600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:103800000-103812600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:103803000-103812800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:103803800-103817200	Weak transcription	GM12878-XiMat	blood
15	chr4:103804800-103819000	Weak transcription	K562	blood
16	chr4:103808000-103812600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:103810400-103812000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:103810400-103816800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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